Common variable immunodeficiency with CD4+ T lymphocytopenia and overproduction of soluble IL-2 receptor associated with Turner's syndrome and dorsal kyphoscoliosis.
An unusual combination of common variable immunodeficiency (CVID) and Turner's syndrome in a Saudi woman aged 20 years is presented. In addition to panhypogammaglobulinaemia, the patient had CD4+ T lymphocytopenia; however, there was evidence of in vivo activation of T cells and overproduction of soluble interleukin 2 receptor in culture supernate. Mantoux test was positive, but lymphoblastic response to non-specific mitogen was impaired. Immunogenetically the patient was HLA-DR3 positive and karyotypically she was a mosaic (45XO/46XX) with ring X chromosome (46Xr(X)). The presence of severe kyphoscoliosis was possibly related to ring X chromosome. This case highlights the grave consequences of the delayed diagnosis of immunodeficiency and emphasises the heterogeneous nature of CVID.
al-Attas
R A
RA
Department of Immunology, Dammam Central Hospital, Ministry of Health, Saudi Arabia.
Rahi
A H
AH
Ahmed el-FE
D000328:Adult; D002574:Cervical Vertebrae / Q000000981:diagnostic imaging; D017074:Common Variable Immunodeficiency / Q000150:complications* / Q000000981:diagnostic imaging / Q000276:immunology; D005260:Female; D006801:Humans; D007738:Kyphosis / Q000150:complications* / Q000000981:diagnostic imaging / Q000276:immunology; D008214:Lymphocytes / Q000378:metabolism; D011859:Radiography; D015375:Receptors, Interleukin-2 / Q000378:metabolism*; D012272:Ribs / Q000000981:diagnostic imaging; D013131:Spine / Q000000981:diagnostic imaging; D018344:T-Lymphocytopenia, Idiopathic CD4-Positive / Q000150:complications* / Q000000981:diagnostic imaging / Q000276:immunology; D014424:Turner Syndrome / Q000150:complications* / Q000000981:diagnostic imaging / Q000276:immunology
D015375:Receptors, Interleukin-2